rs2074356

A SNP in the C12orf51 gene on chromosome 12. Its most notable genotype is A;A: 2.2x increased risk for esophageal squamous cell cancer in Han Chinese

Gene
C12orf51
Location
Chr 12112,207,597 (GRCh38)
Highest magnitude
2.2Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
4%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in complete genomicsTypical · 0.082% of people
  2. A;GNot rated1.5x increased risk for esophageal squamous cell cancer in Han ChineseMinor · 1.516% of people
  3. A;AMost notableNot rated2.2x increased risk for esophageal squamous cell cancer in Han ChineseWorth knowing · 2.21% of people

SNPedia records rs2074356 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 5 HapMap populations.

  • AverageG;G 82% A;G 16% A;A 1%
  • European ancestry (Utah)G;G 100% A;G 0% A;A 0%
  • Han Chinese (Beijing)G;G 80% A;G 19% A;A 2%
  • Japanese (Tokyo)G;G 64% A;G 33% A;A 4%
  • Yoruba (Nigeria)G;G 100% A;G 0% A;A 0%
  • Chinese (Denver)G;G 69% A;G 29% A;A 2%

Other C12orf51 SNPs

All C12orf51 SNPs

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Notes

rs2074356 is a SNP in an uncharacterized locus on ch 12 known as the chromosome 12 open reading frame 51 C12orf51. In a GWAS study of 8,000+ Han Chinese patients with esophageal squamous cell cancer, each rs2074356(T) allele was associated with an increased risk (odds ratio 1.56, CI:1.45 - 1.68) for the disease. This SNP was also part of a risk panel with additional SNPs, for which see genosets gs244 and gs245, and the risk was also reported to be higher in tobacco and alcohol users. Korean waist-hip ratio rs2074356 (P = 7.8 times 10-12) Esophageal Cancer: Preliminary Research

Source and license

Adapted from rs2074356 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.